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Retina December 2024

Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients

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Tomas S. Aleman; Alejandro J. Roman; Katherine E. Uyhazi; Yu You Jiang; Emma C. Bedoukian; Alexander Sumaroka; Vivian Wu; Malgorzata Swider; Iryna Viarbitskaya; Robert C. Russell; Elizabeth O. Shagena; Arlene J. Santos; Leona W. Serrano; Kelsey M. Parchinski; Rebecca J. Kim; Mariejel L. Weber; Alexandra V. Garafalo; Dorothy A. Thompson; Albert M. Maguire; Jean Bennett; Drew H. Scoles; Erin C. O'Neil; Jessica I. W. Morgan; Artur V. Cideciyan
TAGS: pediatrics, retina, retinal cone, retinal degeneration, vision, photoreceptors, diagnostic imaging, rod photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2024; 65(14):30. https://doi.org/10.1167/iovs.65.14.30

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Early-onset sub-RPE deposits in late-onset retinal degeneration (L-ORD) caused by the c.489C>G (p.S163R) founder variant in C1QTNF5

Artur V Cideciyan; Randa TH Li; Alejandro J Roman; Alexander Sumaroka; Chloe M Stanton; Malgorzata Swider; Alexandra V Garafalo; Elise Heon; Ajoy Vincent; Alan F Wright; Roly Megaw; Tomas S Aleman; Andrew C Browning; Baljean Dhillon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):1385.

ARVO Annual Meeting Abstract June 2024

Treatment Potential of RPGRIP1 -associated Inherited Retinal Degenerations

Emma Bedoukian; Jean Bennett; Katherine E. Uyhazi; Albert Maguire; Erin O'Neil; Emily Krauss; Alejandro J Roman; Alexander Sumaroka; Malgorzata Swider; Drew Scoles; Alexandra V Garafalo; Artur V Cideciyan; Tomas S Aleman

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2209.

Retina December 2023

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

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Randa T. H. Li; Alejandro J. Roman; Alexander Sumaroka; Chloe M. Stanton; Malgorzata Swider; Alexandra V. Garafalo; Elise Heon; Ajoy Vincent; Alan F. Wright; Roly Megaw; Tomas S. Aleman; Andrew C. Browning; Baljean Dhillon; Artur V. Cideciyan
TAGS: gene editing, photoreceptors, retina, retinal degeneration, tissue degeneration, diagnostic imaging, retinal cone, fovea centralis, natural history, eye
Invest. Ophthalmol. Vis. Sci.. 2023; 64(15):33. https://doi.org/10.1167/iovs.64.15.33

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Long durability of foveal cone vision improvement after single injections of sepofarsen confirmed in a second CEP290 -LCA eye

Artur V Cideciyan; Samuel Jacobson; Allen Ho; Malgorzata Swider; Alexander Sumaroka; Alejandro J Roman; Alexandra V Garafalo; Vivian Wu; Michael Schwartz; Aniz Girach

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3833.

Retina December 2022

Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations

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Artur V. Cideciyan; Samuel G. Jacobson; Malgorzata Swider; Alexander Sumaroka; Rebecca Sheplock; Arun K. Krishnan; Alexandra V. Garafalo; Karina E. Guziewicz; Gustavo D. Aguirre; William A. Beltran; Elise Heon
TAGS: best1 gene, eye, mutation, photoreceptors, retina, retinal cone, rod photoreceptors, vitelliform dystrophy, fovea centralis, vision
Invest. Ophthalmol. Vis. Sci.. 2022; 63(13):12. https://doi.org/10.1167/iovs.63.13.12

ARVO Annual Meeting Abstract June 2022

Long-term follow up of gene therapy for NPHP5 -LCA in a canine model shows restoration of photoreceptor function and vision for > 5 years

William A Beltran; Artur V Cideciyan; Ana Ripolles-Garcia; Valerie L Dufour; Yu Sato; Alexa Gray; Malgorzata Swider; Sanford L Boye; William W Hauswirth; Samuel G. Jacobson; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):454.

Articles September 2021

Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry

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Arun K. Krishnan; Alejandro J. Roman; Malgorzata Swider; Samuel G. Jacobson; Artur V. Cideciyan
TAGS: retinitis pigmentosa, rod photoreceptors, dynamic range
Trans. Vis. Sci. Tech.. 2021; 10(11):3. https://doi.org/10.1167/tvst.10.11.3

ARVO Annual Meeting Abstract June 2021

Macular rod function in retinitis pigmentosa (RP): Comparison of scotopic microperimeter to modified Humphrey field analyzer

Arun kumar Krishnan; Alejandro Roman; Malgorzata Swider; Samuel G Jacobson; Artur V Cideciyan

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3545.

Articles December 2020

Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial

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Evelyn P. Semenov; Rebecca Sheplock; Alejandro J. Roman; David B. McGuigan; Malgorzata Swider; Artur V. Cideciyan; Samuel G. Jacobson

Trans. Vis. Sci. Tech.. 2020; 9(13):13. https://doi.org/10.1167/tvst.9.13.13

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Transient pupillary light reflexes driven by foveal cones in CEP290- or in NPHP5- associated LCA-ciliopathies

Arun kumar Krishnan; Jason Charng; Samuel G Jacobson; Alejandro J Roman; Alexandra Garafalo; Alexander Sumaroka; Malgorzata Swider; Evelyn Semenov; Rebecca Sheplock; Elise Heon; Artur V Cideciyan

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1833.

ARVO Annual Meeting Abstract July 2018

BEST1 gene augmentation therapy corrects light-modulated retinal micro-detachments

Karina E Guziewicz; Artur V Cideciyan; William A Beltran; Andras M Komaromy; Valerie Dufour; Malgorzata Swider; Simone Iwabe; Alexander Sumaroka; Brian T Kendrick; Gordon Ruthel; Vince A Chiodo; Elise Heon; William W Hauswirth; Samuel G Jacobson; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4522.

ARVO Annual Meeting Abstract July 2018

Long-term preservation of photoreceptor function and structure following early-stage treatment by AAV-mediated gene augmentation in canine model of NPHP5 Leber congenital amaurosis

Gustavo D Aguirre; Artur V Cideciyan; Sanford L Boye; Simone Iwabe; Valerie Dufour; Malgorzata Swider; Karolina Roszak; William W Hauswirth; Samuel G Jacobson; William A Beltran

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):6006.

Retina June 2017

Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells

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Jason Charng; Samuel G. Jacobson; Elise Heon; Alejandro J. Roman; David B. McGuigan, III; Rebecca Sheplock; Mychajlo S. Kosyk; Malgorzata Swider; Artur V. Cideciyan
TAGS: blindness, luminance, photoreceptors, pupil, reflex, retinal ganglion cells
Invest. Ophthalmol. Vis. Sci.. 2017; 58(7):3215-3224. https://doi.org/10.1167/iovs.17-21909

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Interocular Symmetry of Rod and Cone Topography in Human ORF15-RPGR -XLRP Disease Despite Large Intraretinal, Intrafamilial and Interfamilial Variation

Artur V Cideciyan; Jason Charng; Samuel G Jacobson; Alexander Sumaroka; Sharon B. Schwartz; Malgorzata Swider; Alejandro J Roman; Rebecca Sheplock; Manisha Anand; Marc C. Peden; Hemant Khanna; Elise Heon; Alan F. Wright; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3232.

ARVO Annual Meeting Abstract June 2017

AAV-mediated Knockdown and Replacement of Rhodopsin Protects Rods in a Canine Model of RHO -ADRP

William A Beltran; Artur V Cideciyan; Raghavi Sudharsan; Michael Massengill; Brian Rossmiller; Valerie Liliane Dufour; felipe Pompeo Marinho; Tatyana Appelbaum; Malgorzata Swider; Mychajlo S. Kosyk; Simone Iwabe; William W Hauswirth; Samuel G Jacobson; Alfred S Lewin; Gustavo D Aguirre

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):4483.

Retina May 2017

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene

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Samuel G. Jacobson; Artur V. Cideciyan; Alexander Sumaroka; Alejandro J. Roman; Jason Charng; Monica Lu; Windy Choi; Rebecca Sheplock; Malgorzata Swider; Mychajlo S. Kosyk; Sharon B. Schwartz; Edwin M. Stone; Gerald A. Fishman
TAGS: cohort studies, eye, genes, introns, leber's amaurosis, mutation, outcome measures, questionnaires, vision, diagnostic imaging
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2609-2622. https://doi.org/10.1167/iovs.17-21560

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Comparative Measurements of Rod Function in Retinal Degenerations with Two-color Dark-adapted Perimetry

Artur V Cideciyan; Jason Charng; Malgorzata Swider; Rebecca Sheplock; David B McGuigan; Rodrigo Matsui; Alejandro J Roman; Sharon B Schwartz; Samuel G Jacobson

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):131.

ARVO Annual Meeting Abstract September 2016

Fragile Maculas in Patients with Retinal Degeneration due to RPGR - ORF15 Mutations: Spatio-temporal Models of Disease Progression

Jason Charng; Malgorzata Swider; Rebecca Sheplock; Alexander Sumaroka; Alejandro J Roman; Marc Christopher Peden; Elise Heon; Sharon B Schwartz; Samuel G Jacobson; Artur V Cideciyan

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):156.

Retina September 2015

Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration

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Rodrigo Matsui; Artur V. Cideciyan; Sharon B. Schwartz; Alexander Sumaroka; Alejandro J. Roman; Malgorzata Swider; Wei Chieh Huang; Rebecca Sheplock; Samuel G. Jacobson
TAGS: cohort studies, heterogeneity, pathophysiology, retinal degeneration, rod photoreceptors, scotoma, vision, retinal cone
Invest. Ophthalmol. Vis. Sci.. 2015; 56(10):6007-6018. https://doi.org/10.1167/iovs.15-17174

Includes: Supplemental Content

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Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients

Early-onset sub-RPE deposits in late-onset retinal degeneration (L-ORD) caused by the c.489C>G (p.S163R) founder variant in C1QTNF5

Treatment Potential of RPGRIP1 -associated Inherited Retinal Degenerations

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

Long durability of foveal cone vision improvement after single injections of sepofarsen confirmed in a second CEP290 -LCA eye

Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations

Long-term follow up of gene therapy for NPHP5 -LCA in a canine model shows restoration of photoreceptor function and vision for > 5 years

Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry

Macular rod function in retinitis pigmentosa (RP): Comparison of scotopic microperimeter to modified Humphrey field analyzer

Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial

Transient pupillary light reflexes driven by foveal cones in CEP290- or in NPHP5- associated LCA-ciliopathies

BEST1 gene augmentation therapy corrects light-modulated retinal micro-detachments

Long-term preservation of photoreceptor function and structure following early-stage treatment by AAV-mediated gene augmentation in canine model of NPHP5 Leber congenital amaurosis

Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells

Interocular Symmetry of Rod and Cone Topography in Human ORF15-RPGR -XLRP Disease Despite Large Intraretinal, Intrafamilial and Interfamilial Variation

AAV-mediated Knockdown and Replacement of Rhodopsin Protects Rods in a Canine Model of RHO -ADRP

Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene

Comparative Measurements of Rod Function in Retinal Degenerations with Two-color Dark-adapted Perimetry

Fragile Maculas in Patients with Retinal Degeneration due to RPGR - ORF15 Mutations: Spatio-temporal Models of Disease Progression

Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration

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